Caspase-12 ablation preserves muscle function in the mdx mouse

C Moorwood, ER Barton - Human molecular genetics, 2014 - academic.oup.com
C Moorwood, ER Barton
Human molecular genetics, 2014academic.oup.com
Duchenne muscular dystrophy (DMD) is a devastating muscle wasting disease caused by
mutations in dystrophin. Several downstream consequences of dystrophin deficiency are
triggers of endoplasmic reticulum (ER) stress, including loss of calcium homeostasis,
hypoxia and oxidative stress. During ER stress, misfolded proteins accumulate in the ER
lumen and the unfolded protein response (UPR) is triggered, leading to adaptation or
apoptosis. We hypothesized that ER stress is heightened in dystrophic muscles and …
Duchenne muscular dystrophy (DMD) is a devastating muscle wasting disease caused by mutations in dystrophin. Several downstream consequences of dystrophin deficiency are triggers of endoplasmic reticulum (ER) stress, including loss of calcium homeostasis, hypoxia and oxidative stress. During ER stress, misfolded proteins accumulate in the ER lumen and the unfolded protein response (UPR) is triggered, leading to adaptation or apoptosis. We hypothesized that ER stress is heightened in dystrophic muscles and contributes to the pathology of DMD. We observed increases in the ER stress markers BiP and cleaved caspase-4 in DMD patient biopsies, compared with controls, and an increase in multiple UPR pathways in muscles of the dystrophin-deficient mdx mouse. We then crossed mdx mice with mice null for caspase-12, the murine equivalent of human caspase-4, which are resistant to ER stress. We found that deleting caspase-12 preserved mdx muscle function, resulting in a 75% recovery of both specific force generation and resistance to eccentric contractions. The compensatory hypertrophy normally found in mdx muscles was normalized in the absence of caspase-12; this was found to be due to decreased fibre sizes, and not to a fibre type shift or a decrease in fibrosis. Fibre central nucleation was not significantly altered in the absence of caspase-12, but muscle fibre degeneration found in the mdx mouse was reduced almost to wild-type levels. In conclusion, we have identified heightened ER stress and abnormal UPR signalling as novel contributors to the dystrophic phenotype. Caspase-4 is therefore a potential therapeutic target for DMD.
Oxford University Press